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Title: Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.
Authors: Stephens, Andrew
Other Authors: Ryland, Georgina
Hunter, Sally
Doyle, Maria
Caramia, Franco
Li, Jason
Rowley, Simone
Christie, Michael
Allan, Prue
Bowtell, David
Campbell, Ian
Gorringe, Kylie
Australian Ovarian Cancer Study Group
Keywords: Ovarian Carcinoma
Neoplastic Precursors
Mutational Landscape
Ovarian Tumors
Mucinous Ovarian Tumors
Rare Neoplasms
Ovarian Surface Epithelium
Molecularly Distinct
Exome Level
Sequencing Studies
Epworth Research Institute, Epworth HealthCare, Richmond, Victoria Australia.
Obstetrics and Gynaecology Clinical Institute, Epworth HealthCare, Victoria, Australia
Issue Date: Aug-2015
Publisher: Springer
Citation: Genome Med. 2015 Aug 7;7(1):87
Abstract: BACKGROUND: Mucinous ovarian tumors are an unusual group of rare neoplasms with an apparently clear progression from benign to borderline to carcinoma, yet with a controversial cell of origin in the ovarian surface epithelium. They are thought to be molecularly distinct from other ovarian tumors but there have been no exome-level sequencing studies performed to date. METHODS: To understand the genetic etiology of mucinous ovarian tumors and assess the presence of novel therapeutic targets or pathways, we undertook exome sequencing of 24 tumors encompassing benign (5), borderline (8) and carcinoma (11) histologies and also assessed a validation cohort of 58 tumors for specific gene regions including exons 4-9 of TP53. RESULTS: The predominant mutational signature was of C>T transitions in a NpCpG context, indicative of deamination of methyl-cytosines. As well as mutations in known drivers (KRAS, BRAF and CDKN2A), we identified a high percentage of carcinomas with TP53 mutations (52 %), and recurrent mutations in RNF43, ELF3, GNAS, ERBB3 and KLF5. CONCLUSIONS: The diversity of mutational targets suggests multiple routes to tumorigenesis in this heterogeneous group of tumors that is generally distinct from other ovarian subtypes.
DOI: 10.1186/s13073-015-0210-y.
PubMed URL:
ISSN: 1756-994X
Journal Title: Genome Medicine
Type: Journal Article
Affiliated Organisations: Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria Australia.
Department of Anatomical Pathology, Royal Melbourne Hospital, Parkville, Victoria Australia.
Centre for Cancer Research, MIMR-PHI Institute of Medical Research, Clayton, Victoria Australia
Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria Australia.
Bioinformatics Core Facility, Peter MacCallum Cancer Centre, East Melbourne, Victoria Australia.
Department of Pathology, Peter MacCallum Cancer Centre, East Melbourne, Victoria Australia.
Department of Molecular and Translational Sciences, Monash University, Clayton, Victoria Australia
Cancer Genetics and Genomics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria Australia
Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria Australia
Department of Pathology, University of Melbourne, Parkville, Victoria Australia.
Type of Clinical Study or Trial: Cohort Study
Appears in Collections:Cancer Services
Women's and Children's

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